Q96DN2 (VWCE_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 82.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: von Willebrand factor C and EGF domain-containing protein Alternative name(s): HBV X protein up-regulated gene 11 protein HBxAg up-regulated gene 11 protein | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 955 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | May be a regulatory element in the beta-catenin signaling pathway and a target for chemoprevention of hapatocellular carcinoma. Ref.5 |
| Subcellular location | Secreted Potential. Note: According to Ref.5 is localized in the cytoplasm. Ref.5 |
| Tissue specificity | Expressed in liver. Ref.5 |
| Induction | By HBxAg. Ref.5 |
| Sequence similarities | Contains 4 EGF-like domains. Contains 6 VWFC domains. |
| Sequence caution | The sequence AAO47606.1 differs from that shown. Reason: Frameshift at positions 210, 232, 745, 761, 769, 837 and 912. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Secreted |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | EGF-like domain Repeat Signal |
| Ligand | Calcium |
| PTM | Disulfide bond Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Cellular_component | extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular_function | calcium ion binding Inferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q96DN2-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q96DN2-2) The sequence of this isoform differs from the canonical sequence as follows: 219-219: V → M 220-955: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 21 | 21 | Potential | ||||||||
| Chain | 22 – 955 | 934 | von Willebrand factor C and EGF domain-containing protein | PRO_0000318580 | |||||||
Regions | |||||||||||
| Domain | 70 – 98 | 29 | EGF-like 1 | ||||||||
| Domain | 142 – 180 | 39 | EGF-like 2; calcium-binding Potential | ||||||||
| Domain | 181 – 219 | 39 | EGF-like 3; calcium-binding Potential | ||||||||
| Domain | 220 – 262 | 43 | EGF-like 4; calcium-binding Potential | ||||||||
| Domain | 384 – 441 | 58 | VWFC 1 | ||||||||
| Domain | 442 – 502 | 61 | VWFC 2 | ||||||||
| Domain | 503 – 560 | 58 | VWFC 3 | ||||||||
| Domain | 566 – 626 | 61 | VWFC 4 | ||||||||
| Domain | 627 – 685 | 59 | VWFC 5 | ||||||||
| Domain | 686 – 743 | 58 | VWFC 6 | ||||||||
| Compositional bias | 285 – 288 | 4 | Poly-Leu | ||||||||
| Compositional bias | 835 – 872 | 38 | Pro-rich | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 462 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 472 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 146 ↔ 155 | By similarity | |||||||||
| Disulfide bond | 151 ↔ 164 | By similarity | |||||||||
| Disulfide bond | 166 ↔ 179 | By similarity | |||||||||
| Disulfide bond | 185 ↔ 194 | By similarity | |||||||||
| Disulfide bond | 190 ↔ 203 | By similarity | |||||||||
| Disulfide bond | 205 ↔ 218 | By similarity | |||||||||
| Disulfide bond | 224 ↔ 237 | By similarity | |||||||||
| Disulfide bond | 233 ↔ 246 | By similarity | |||||||||
| Disulfide bond | 248 ↔ 261 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 219 | 1 | V → M in isoform 2. | VSP_031230 | |||||||
| Alternative sequence | 220 – 955 | 736 | Missing in isoform 2. | VSP_031231 | |||||||
| Natural variant | 842 | 1 | P → R. Corresponds to variant rs3750982 [ dbSNP | Ensembl ]. | VAR_038782 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 134 | 1 | T → A in BAB71219. Ref.1 | ||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Teratocarcinoma. |
| [2] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Lymph. |
| [4] | "Upregulated expression of a unique gene by hepatitis B x antigen promotes hepatocellular growth and tumorigenesis." Lian Z., Liu J., Li L., Li X., Tufan S.N.L., Clayton M., Wu M.-C., Wang H.-Y., Arbuthnot P., Kew M., Feitelson M.A. Neoplasia 5:229-244(2003) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 73-955 (ISOFORM 1). |
| [5] | "Enhanced cell survival of Hep3B cells by the hepatitis B x antigen effector, URG11, is associated with upregulation of beta-catenin." Lian Z., Liu J., Li L., Li X., Clayton M., Wu M.-C., Wang H.-Y., Arbuthnot P., Kew M., Fan D., Feitelson M.A. Hepatology 43:415-424(2006) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, INDUCTION BY HBXAG, TISSUE SPECIFICITY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AK056571 mRNA. Translation: BAB71219.1. BC052564 mRNA. No translation available. BC077719 mRNA. No translation available. BC142624 mRNA. Translation: AAI42625.1. CH471076 Genomic DNA. Translation: EAW73932.1. AY205235 mRNA. Translation: AAO47606.1. Frameshift. |
| IPI | IPI00061007. IPI00884977. |
| RefSeq | NP_689931.2. NM_152718.2. |
| UniGene | Hs.60640. |
3D structure databases | |
| HSSP | HSSP built from PDB template 1WHF based on UniProtKB P00743. |
| ProteinModelPortal | Q96DN2. |
| SMR | Q96DN2. Positions 73-288. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q96DN2. 1 interaction. |
| STRING | 9606.ENSP00000334186. |
PTM databases | |
| PhosphoSite | Q96DN2. |
Polymorphism databases | |
| DMDM | 269849477. |
Proteomic databases | |
| PaxDb | Q96DN2. |
| PRIDE | Q96DN2. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000301770; ENSP00000301770; ENSG00000167992. ENST00000335613; ENSP00000334186; ENSG00000167992. |
| GeneID | 220001. |
| KEGG | hsa:220001. |
| UCSC | uc001nra.3. human. |
Organism-specific databases | |
| CTD | 220001. |
| GeneCards | GC11M061025. |
| H-InvDB | HIX0009684. |
| HGNC | HGNC:26487. VWCE. |
| HPA | HPA040401. HPA043921. |
| MIM | 611115. gene. |
| neXtProt | NX_Q96DN2. |
| PharmGKB | PA143485669. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG240200. |
| HOGENOM | HOG000168460. |
| HOVERGEN | HBG067558. |
| InParanoid | Q96DN2. |
| OMA | APVNCSS. |
| OrthoDB | EOG490788. |
| PhylomeDB | Q96DN2. |
Gene expression databases | |
| ArrayExpress | Q96DN2. |
| Bgee | Q96DN2. |
| CleanEx | HS_VWCE. |
| Genevestigator | Q96DN2. |
Family and domain databases | |
| InterPro | IPR000742. EG-like_dom. IPR001881. EGF-like_Ca-bd. IPR013032. EGF-like_CS. IPR000152. EGF-type_Asp/Asn_hydroxyl_site. IPR018097. EGF_Ca-bd_CS. IPR001007. VWF_C. [Graphical view] |
| Pfam | PF07645. EGF_CA. 3 hits. PF00093. VWC. 4 hits. [Graphical view] |
| SMART | SM00181. EGF. 1 hit. SM00179. EGF_CA. 3 hits. SM00214. VWC. 6 hits. [Graphical view] |
| PROSITE | PS00010. ASX_HYDROXYL. 3 hits. Uncertain. PS00022. EGF_1. 1 hit. PS01186. EGF_2. 2 hits. PS50026. EGF_3. 3 hits. PS01187. EGF_CA. 3 hits. PS01208. VWFC_1. 5 hits. PS50184. VWFC_2. 5 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 220001. |
| NextBio | 90941. |
| SOURCE | Search... |
Entry information
| Entry name | VWCE_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q96DN2 Secondary accession number(s): A5PKV0, Q7Z7L6, Q86WK8 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 11 Human chromosome 11: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
